ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.833dup (p.Glu279fs)

dbSNP: rs2151874375
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University RCV001449920 SCV001623017 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-05-18 no assertion criteria provided clinical testing The c.833dupT variant in CYP21A2 was discovered in 1 chinese CAH patient with p.I173N on the other allel presenting as SV CAH.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.